Canonical Allele Identifier: CA373442409
Gene: GRHPR HGNC NCBI

Linked Data

gnomAD v4: 9-37426539-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37426539G>T , CM000671.2:g.37426539G>T GRCh38
NC_000009.11:g.37426536G>T , CM000671.1:g.37426536G>T GRCh37
NC_000009.10:g.37416536G>T NCBI36
NG_008135.1:g.8830G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.289G>T MANE Select ENSP00000313432.6:p.Gly97Trp
ENST00000318158.10:c.289G>T ENSP00000313432.6:p.Gly97Trp
ENST00000377824.8:n.326G>T
ENST00000460882.5:n.316G>T
ENST00000487399.5:n.841G>T
ENST00000491488.5:n.110-1945G>T
ENST00000493368.5:n.346G>T
ENST00000607784.1:c.289G>T ENSP00000475569.1:p.Gly97Trp
NM_012203.1:c.289G>T NP_036335.1:p.Gly97Trp
XM_005251631.1:c.84-1945G>T XP_005251688.1:n.84-1945G>T
XM_011518073.1:c.-474G>T XP_011516375.1:n.-474G>T
XR_929374.1:n.374G>T
XM_017015320.2:c.289G>T XP_016870809.1:p.Gly97Trp
XM_017015321.2:c.289G>T XP_016870810.1:p.Gly97Trp
XM_017015323.2:c.-474G>T XP_016870812.1:n.-474G>T
XM_024447716.1:c.562G>T XP_024303484.1:p.Gly188Trp
XM_024447717.1:c.562G>T XP_024303485.1:p.Gly188Trp
XR_002956828.1:n.577G>T
XR_002956829.1:n.577G>T
XR_002956830.1:n.348G>T
XR_002956831.1:n.139-1945G>T
XR_002956832.1:n.348G>T
NM_012203.2:c.289G>T MANE Select NP_036335.1:p.Gly97Trp